trpv4相关神经病和神经病变的表型变异性:一个病例系列

IF 3.2 4区 医学 Q2 CLINICAL NEUROLOGY
A. Murtazina, P. N. Tsabay, G. Rudenskaya, L. Bessonova, F. Bostanova, D. Guseva, I. Sharkova, O. Shchagina, A. Orlova, O. Ryzhkova, T. Markova, A. S. Kuchina, S. Nikitin, E. Dadali
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引用次数: 0

摘要

TRPV4相关的神经肌肉疾病代表了神经病变和运动神经元疾病的临床谱。迄今为止,有3种表型形式。有2C型腓骨肌萎缩症、8型远端遗传性运动神经病变(DHMN8)、肩胛骨-腓骨脊髓性肌萎缩症(SPSMA)。我们报告了3个DNMN8家族和1个SPSMA家族。在所有病例中,DNA分析显示TRPV4基因的单核苷酸变异先前报道为致病性。在3个先证者中,运动和运动感觉神经病变的症状组合导致临床诊断的建立困难。患者有轻微的足部感觉障碍,但在所有这些病例中,神经传导研究显示正常的感觉神经动作电位。考虑到运动神经病变的主要体征,这些患者被诊断为DNMN8。感觉障碍的临床症状被认为与诊断不矛盾,因为它们可以在各种形式的远端运动神经病变中观察到。一名患者的SPSMA临床特征与先前文献中描述的相符。累及肩带肌和腓肌以及针肌电图的神经源性改变使临床怀疑SPSMA。TRPV4相关神经肌肉疾病的一个显著特征是声带轻瘫、感音神经性听力损失和呼吸衰竭,但根据我们的临床报告,它们不是强制性的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Phenotypic variability in TRPV4-associated neuropathies and neuronopathies: a case series
TRPV4‑associated neuromuscular diseases represent a clinical spectrum of neuropathies and motor neuron disorders. To date, 3 phenotypic forms are distinguished. There are Charcot–Marie–Tooth disease type 2C, distal hereditary motor neuropathy type 8 (DHMN8), scapulo‑peroneal spinal muscular atrophy (SPSMA). Here we report 3 families with DNMN8 and one family with SPSMA. In all cases, DNA‑analysis revealed single nucleotide variants in the TRPV4 gene previously reported as pathogenic. In 3 probands, a combination of signs of both motor and motor‑sensory neuropathies led to difficulties in the establishment of the clinical diagnosis. Patients had mild sensory disturbances in the feet, but in all of these cases nerve conduction study revealed normal sensory nerve action potentials. Considering the prevailing signs of motor neuropathy, these patients were diagnosed with DNMN8. Clinical signs of sensory disturbances are regarded as not  contradicting  the  diagnosis,  since  they  can  be  observed  in  various  forms  of  distal  motor  neuropathies. The clinical features of SPSMA in one patient corresponded to those previously described in the literature. The involvement of the shoulder girdle muscles and the peroneal muscles and neurogenic changes in needle electromyography allow suspecting SPSMA clinically. A distinctive features of TRPV4‑associated neuromuscular diseases are the vocal cords paresis, sensorineural hearing loss and respiratory failure, however they are not obligatory according to our clinical reports.
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来源期刊
Journal of neuromuscular diseases
Journal of neuromuscular diseases Medicine-Neurology (clinical)
CiteScore
5.10
自引率
6.10%
发文量
102
期刊介绍: The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). The journal publishes research reports, reviews, short communications, letters-to-the-editor, and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.
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